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2nd CNAG Workshop: Introduction to Genome Analysis

The CNAG organises the 2nd workshop Introduction to Genome Analysis to help collaborators get a better understanding and improve interpretation of genome data

On April 6, the CNAG organises the workshop Introduction to Genome Analysis to help collaborators get a better understanding and improve interpretation of genome data. This is the second edition of the workshops that the CNAG offers to current and prospective collaborators.

The unprecedented advance of NGS technologies imposes high demands on bioinformatics tools required for data analysis. The CNAG collaborates with researchers from different fields and helps them deal with this increasing quantity of genome sequencing data to find, characterise and associate genetic variants and candidate disease genes. The results provided by the CNAG are personalised for each project, and data analysis is performed taking into account the initial hypothesis of the study. The correct interpretation of the results is essential for the projects’ success.

The aim of these workshops is to help CNAG collaborators better understand the results and how they were generated and become more confident when working with the results provided by the CNAG. Specifically the workshop focuses on the variant results produced at the CNAG for collaborative projects on exome and whole genome resequencing of human samples. This year, the course is planned as a full 1-day event divided in two parts:

• An introduction to the basic concepts of the bioinformatic process of variant calling and the standard file formats.

• A hands-on part on how to filter the results, on functional and predictive annotations and which of them may be helpful for filtering, as well variant validation through visual inspection of the alignment data at variant positions.

Sophia Derdak, Raúl Tonda, Steven Laurie and Sergi Beltran, members of the CNAG Data Analysis Team, will be in charge of teaching the topics of the workshop.